PIGS

Research collaboration

Studies using an animal model could represent a good strategy for investigating the pathophysiology of PIGS mutations. Because GPI-APs are widely expressed during mammalian development and their absence frequently results in lethal global deficits in knockout mouse models, a preferred strategy might involve using CRISPR-Cas9 to knock human PIGS mutations into mice. As more IGDs are identified, it might become possible to discover genotype-phenotype correlations that could be useful in predicting the severity of a condition on the basis of the disrupted step in the pathway.